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Protein

Lysosome membrane protein 2

Gene

SCARB2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Acts as a lysosomal receptor for glucosylceramidase (GBA) targeting.1 Publication
(Microbial infection) Acts as a receptor for enterovirus 71.1 Publication

GO - Molecular functioni

  • enzyme binding Source: BHF-UCL
  • scavenger receptor activity Source: ARUK-UCL
  • transmembrane signaling receptor activity Source: ARUK-UCL
  • virus receptor activity Source: UniProtKB-KW

GO - Biological processi

  • action potential Source: ARUK-UCL
  • fatty acid metabolic process Source: ARUK-UCL
  • membrane organization Source: Reactome
  • phagocytosis, engulfment Source: ARUK-UCL
  • positive regulation of neuron projection development Source: ARUK-UCL
  • production of molecular mediator involved in inflammatory response Source: ARUK-UCL
  • protein targeting to lysosome Source: BHF-UCL
  • regulation of endosome organization Source: ParkinsonsUK-UCL
  • regulation of glucosylceramidase activity Source: Ensembl
  • regulation of lipopolysaccharide-mediated signaling pathway Source: ARUK-UCL
  • regulation of lysosome organization Source: ParkinsonsUK-UCL

Keywordsi

Molecular functionHost cell receptor for virus entry, Receptor
Biological processHost-virus interaction

Enzyme and pathway databases

ReactomeiR-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis

Names & Taxonomyi

Protein namesi
Recommended name:
Lysosome membrane protein 2
Alternative name(s):
85 kDa lysosomal membrane sialoglycoprotein
Short name:
LGP85
CD36 antigen-like 2
Lysosome membrane protein II
Short name:
LIMP II
Scavenger receptor class B member 2
CD_antigen: CD36
Gene namesi
Name:SCARB2
Synonyms:CD36L2, LIMP2, LIMPII
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000138760.8
HGNCiHGNC:1665 SCARB2
MIMi602257 gene
neXtProtiNX_Q14108

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 4CytoplasmicSequence analysis4
Transmembranei5 – 27HelicalSequence analysisAdd BLAST23
Topological domaini28 – 433LumenalSequence analysisAdd BLAST406
Transmembranei434 – 459HelicalSequence analysisAdd BLAST26
Topological domaini460 – 478CytoplasmicSequence analysisAdd BLAST19

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Epilepsy, progressive myoclonic 4, with or without renal failure (EPM4)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive progressive myoclonic epilepsy associated with renal failure in some cases. Cognitive function is preserved. Myoclonus is a brief, involuntary twitching of a muscle or a group of muscles.
See also OMIM:254900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066744363H → N in EPM4; no renal failure. 1 PublicationCorresponds to variant dbSNP:rs758857853EnsemblClinVar.1
Genetic variants in SCARB2 can act as modifier of the phenotypic expression and severity of Gaucher disease.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi475L → A, G, D or V: Prevents the targeting of the protein to lysosomes. 1 Publication1
Mutagenesisi475L → I: Some loss in the efficiency of targeting of the protein to lysosomes. 1 Publication1
Mutagenesisi476I → A or V: Does not prevent the targeting of the protein to lysosomes completely. 1 Publication1
Mutagenesisi476I → D, E or G: Prevents the targeting of the protein to lysosomes. 1 Publication1
Mutagenesisi476I → L: Normal targeting of the protein to lysosomes. 1 Publication1
Mutagenesisi477R → A, E, G, K or Q: Normal targeting of the protein to lysosomes. 1 Publication1
Mutagenesisi478T → G, I, S or V: Normal targeting of the protein to lysosomes. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi950
MalaCardsiSCARB2
MIMi254900 phenotype
OpenTargetsiENSG00000138760
Orphaneti163696 Action myoclonus - renal failure syndrome
77259 Gaucher disease type 1
308 Unverricht-Lundborg disease
PharmGKBiPA35038

Polymorphism and mutation databases

BioMutaiSCARB2
DMDMi2498525

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001441551 – 478Lysosome membrane protein 2Add BLAST478

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi45N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi68N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi105N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi206N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi224N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi249N-linked (GlcNAc...) asparagine3 Publications1
Disulfide bondi274 ↔ 3291 Publication
Glycosylationi304N-linked (GlcNAc...) asparagine2 Publications1
Disulfide bondi312 ↔ 3181 Publication
Glycosylationi325N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi412N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi430N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ14108
PaxDbiQ14108
PeptideAtlasiQ14108
PRIDEiQ14108
ProteomicsDBi59816

PTM databases

iPTMnetiQ14108
PhosphoSitePlusiQ14108
SwissPalmiQ14108

Expressioni

Gene expression databases

BgeeiENSG00000138760
CleanExiHS_SCARB2
ExpressionAtlasiQ14108 baseline and differential
GenevisibleiQ14108 HS

Organism-specific databases

HPAiCAB015415
HPA018014

Interactioni

Subunit structurei

Interacts with GBA.2 Publications
(Microbial infection) Interacts with enterovirus 71 capsid proteins.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
PLCG1P191742EBI-1564650,EBI-79387

GO - Molecular functioni

  • enzyme binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi107388, 30 interactors
ELMiQ14108
IntActiQ14108, 20 interactors
MINTiQ14108
STRINGi9606.ENSP00000264896

Structurei

Secondary structure

1478
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi38 – 40Combined sources3
Helixi48 – 54Combined sources7
Beta strandi60 – 70Combined sources11
Helixi72 – 76Combined sources5
Beta strandi82 – 103Combined sources22
Turni104 – 107Combined sources4
Beta strandi108 – 119Combined sources12
Helixi121 – 123Combined sources3
Beta strandi124 – 126Combined sources3
Turni128 – 130Combined sources3
Beta strandi132 – 136Combined sources5
Helixi138 – 148Combined sources11
Helixi153 – 162Combined sources10
Beta strandi167 – 172Combined sources6
Helixi173 – 178Combined sources6
Helixi183 – 191Combined sources9
Beta strandi197 – 199Combined sources3
Turni201 – 204Combined sources4
Beta strandi213 – 216Combined sources4
Helixi222 – 224Combined sources3
Beta strandi227 – 231Combined sources5
Beta strandi234 – 236Combined sources3
Beta strandi239 – 242Combined sources4
Turni243 – 246Combined sources4
Beta strandi266 – 268Combined sources3
Helixi271 – 273Combined sources3
Beta strandi277 – 287Combined sources11
Beta strandi290 – 296Combined sources7
Helixi299 – 302Combined sources4
Beta strandi303 – 305Combined sources3
Helixi307 – 311Combined sources5
Turni313 – 316Combined sources4
Beta strandi323 – 325Combined sources3
Turni327 – 332Combined sources6
Beta strandi335 – 338Combined sources4
Helixi340 – 342Combined sources3
Helixi347 – 352Combined sources6
Helixi360 – 363Combined sources4
Beta strandi366 – 370Combined sources5
Turni371 – 374Combined sources4
Beta strandi375 – 389Combined sources15
Helixi396 – 398Combined sources3
Beta strandi404 – 416Combined sources13
Helixi419 – 428Combined sources10

3D structure databases

ProteinModelPortaliQ14108
SMRiQ14108
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni155 – 191Important for interaction with GBAAdd BLAST37

Sequence similaritiesi

Belongs to the CD36 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3776 Eukaryota
ENOG410XS17 LUCA
GeneTreeiENSGT00530000062927
HOGENOMiHOG000252951
HOVERGENiHBG106707
InParanoidiQ14108
KOiK12384
OMAiKCNMING
OrthoDBiEOG091G0CH9
PhylomeDBiQ14108
TreeFamiTF317925

Family and domain databases

InterProiView protein in InterPro
IPR002159 CD36_fam
IPR005429 LimpII
PANTHERiPTHR11923 PTHR11923, 1 hit
PfamiView protein in Pfam
PF01130 CD36, 1 hit
PRINTSiPR01609 CD36FAMILY
PR01611 LIMPII

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q14108-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGRCCFYTAG TLSLLLLVTS VTLLVARVFQ KAVDQSIEKK IVLRNGTEAF
60 70 80 90 100
DSWEKPPLPV YTQFYFFNVT NPEEILRGET PRVEEVGPYT YRELRNKANI
110 120 130 140 150
QFGDNGTTIS AVSNKAYVFE RDQSVGDPKI DLIRTLNIPV LTVIEWSQVH
160 170 180 190 200
FLREIIEAML KAYQQKLFVT HTVDELLWGY KDEILSLIHV FRPDISPYFG
210 220 230 240 250
LFYEKNGTND GDYVFLTGED SYLNFTKIVE WNGKTSLDWW ITDKCNMING
260 270 280 290 300
TDGDSFHPLI TKDEVLYVFP SDFCRSVYIT FSDYESVQGL PAFRYKVPAE
310 320 330 340 350
ILANTSDNAG FCIPEGNCLG SGVLNVSICK NGAPIIMSFP HFYQADERFV
360 370 380 390 400
SAIEGMHPNQ EDHETFVDIN PLTGIILKAA KRFQINIYVK KLDDFVETGD
410 420 430 440 450
IRTMVFPVMY LNESVHIDKE TASRLKSMIN TTLIITNIPY IIMALGVFFG
460 470
LVFTWLACKG QGSMDEGTAD ERAPLIRT
Length:478
Mass (Da):54,290
Last modified:January 23, 2007 - v2
Checksum:iFDCF27F3BA337B2C
GO
Isoform 2 (identifier: Q14108-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     93-235: Missing.

Note: No experimental confirmation available.
Show »
Length:335
Mass (Da):37,767
Checksum:i41D643B2B222B187
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti351S → P in BAG59150 (PubMed:14702039).Curated1

Mass spectrometryi

Molecular mass is 54158.97 Da from positions 2 - 478. Determined by MALDI. 1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066744363H → N in EPM4; no renal failure. 1 PublicationCorresponds to variant dbSNP:rs758857853EnsemblClinVar.1
Natural variantiVAR_066745471E → G May act as a modifier of Gaucher disease. 1 PublicationCorresponds to variant dbSNP:rs755903502EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04482693 – 235Missing in isoform 2. 1 PublicationAdd BLAST143

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D12676 mRNA Translation: BAA02177.1
BT006939 mRNA Translation: AAP35585.1
AK296519 mRNA Translation: BAG59150.1
AK313016 mRNA Translation: BAG35851.1
AC034139 Genomic DNA No translation available.
AC110795 Genomic DNA No translation available.
CH471057 Genomic DNA Translation: EAX05779.1
BC021892 mRNA Translation: AAH21892.1
CCDSiCCDS3577.1 [Q14108-1]
CCDS56335.1 [Q14108-2]
PIRiA56525
RefSeqiNP_001191184.1, NM_001204255.1 [Q14108-2]
NP_005497.1, NM_005506.3 [Q14108-1]
UniGeneiHs.349656

Genome annotation databases

EnsembliENST00000264896; ENSP00000264896; ENSG00000138760 [Q14108-1]
ENST00000452464; ENSP00000399154; ENSG00000138760 [Q14108-2]
GeneIDi950
KEGGihsa:950
UCSCiuc003hju.3 human [Q14108-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSCRB2_HUMAN
AccessioniPrimary (citable) accession number: Q14108
Secondary accession number(s): B4DKD8, E7EM68, Q53Y63
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: January 23, 2007
Last modified: July 18, 2018
This is version 175 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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